Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2002 1
2006 1
2007 3
2008 3
2009 2
2010 5
2011 5
2012 12
2013 4
2014 4
2015 5
2016 6
2017 6
2018 11
2019 5
2020 14
2021 9
2022 9
2023 9
2024 1

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 28520343

101 results

Results by year

Filters applied: . Clear all
Page 1
Pitt-Hopkins Syndrome.
Dean L. Dean L. 2012 Mar 8 [updated 2018 Aug 1]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. 2012 Mar 8 [updated 2018 Aug 1]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. PMID: 28520343 Free Books & Documents. Review.
Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.
Sparber P, Filatova A, Anisimova I, Markova T, Voinova V, Chuhrova A, Tabakov V, Skoblov M. Sparber P, et al. Eur J Med Genet. 2020 Dec;63(12):104088. doi: 10.1016/j.ejmg.2020.104088. Epub 2020 Oct 15. Eur J Med Genet. 2020. PMID: 33069932
Pitt-Hopkins Syndrome.
Sweetser DA, Elsharkawi I, Yonker L, Steeves M, Parkin K, Thibert R. Sweetser DA, et al. 2012 Aug 30 [updated 2018 Apr 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2012 Aug 30 [updated 2018 Apr 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 22934316 Free Books & Documents. Review.
Pitt-Hopkins Syndrome.
Peippo M, Ignatius J. Peippo M, et al. Mol Syndromol. 2012 Apr;2(3-5):171-180. doi: 10.1159/000335287. Epub 2011 Dec 29. Mol Syndromol. 2012. PMID: 22670138 Free PMC article.
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, Guerneri S, Orteschi D, Murdolo M, Lattante S, Frangella S, Keena B, Harr MH, Zackai E, Zollino M. Bedeschi MF, et al. Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807867
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A. Zweier C, et al. Am J Hum Genet. 2007 May;80(5):994-1001. doi: 10.1086/515583. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436255 Free PMC article.
101 results